THSD4 (thrombospondin type 1 domain containing 4)

2014-08-01  

Identity

HGNC
LOCATION
15q23
LOCUSID
ALIAS
ADAMTSL-6,ADAMTSL6,FVSY9334,PRO34005
FUSION GENES

Other Information

Locus ID:

NCBI: 79875
MIM: 614476
HGNC: 25835
Ensembl: ENSG00000187720

Variants:

dbSNP: 79875
ClinVar: 79875
TCGA: ENSG00000187720
COSMIC: THSD4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187720ENST00000261862Q6ZMP0
ENSG00000187720ENST00000355327Q6ZMP0
ENSG00000187720ENST00000357769Q6ZMP0
ENSG00000187720ENST00000620694A0A087X1T0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

References

Pubmed IDYearTitleCitations
200108342010Genome-wide association study identifies five loci associated with lung function.230
200108342010Genome-wide association study identifies five loci associated with lung function.230
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
219650142011Effect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung function.58
254104842014Shift in GATA3 functions, and GATA3 mutations, control progression and clinical presentation in breast cancer.10
218807332011ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly.7
184881372008Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis.6
184881372008Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis.6

Citation

Dessen P

THSD4 (thrombospondin type 1 domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54700/thsd4